ClinVar Miner

List of variants in gene SMAD3 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.74G>T (p.Gly25Val) rs191612061 0.00004
NM_005902.4(SMAD3):c.1120A>G (p.Met374Val) rs370394986 0.00003
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_005902.4(SMAD3):c.533-13_533-10del rs752716057 0.00003
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val) rs779602560 0.00002
NM_005902.4(SMAD3):c.400+5G>T rs766829176 0.00002
NM_005902.4(SMAD3):c.1009+5A>C rs772995932 0.00001
NM_005902.4(SMAD3):c.1009+6C>T rs749052145 0.00001
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp) rs745387614 0.00001
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala) rs1242358787 0.00001
NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn) rs1555405116 0.00001
NM_005902.4(SMAD3):c.207-3C>A rs757772685 0.00001
NM_005902.4(SMAD3):c.239G>A (p.Arg80Gln) rs758823376 0.00001
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln) rs750982529 0.00001
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala) rs863223767 0.00001
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys) rs1253901433 0.00001
NM_005902.4(SMAD3):c.575G>C (p.Ser192Thr) rs1264997614 0.00001
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr) rs1962721856 0.00001
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe) rs886038567 0.00001
NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn) rs1201995588 0.00001
NM_005902.4(SMAD3):c.797C>T (p.Ser266Leu) rs753486471 0.00001
NM_005902.4(SMAD3):c.883C>T (p.Arg295Trp) rs1399970718 0.00001
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr) rs1348033858 0.00001
NM_005902.4(SMAD3):c.964C>A (p.Gln322Lys) rs1963178887 0.00001
NM_005902.4(SMAD3):c.991G>A (p.Val331Ile) rs1320208623 0.00001
NC_000015.10:g.(?_67184717)_(67190546_?)dup
NC_000015.9:g.(?_67358483)_(67358708_?)dup
NC_000015.9:g.(?_67358483)_(67482884_?)dup
NC_000015.9:g.(?_67358493)_(67358718_?)dup
NC_000015.9:g.(?_67473569)_(67482884_?)dup
NM_005902.4(SMAD3):c.1001T>A (p.Ile334Asn)
NM_005902.4(SMAD3):c.1006C>G (p.Pro336Ala)
NM_005902.4(SMAD3):c.1009G>C (p.Gly337Arg)
NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr) rs2140188906
NM_005902.4(SMAD3):c.1019T>C (p.Leu340Pro) rs2140323401
NM_005902.4(SMAD3):c.1029C>G (p.Phe343Leu) rs2140323430
NM_005902.4(SMAD3):c.1033A>T (p.Asn345Tyr)
NM_005902.4(SMAD3):c.1044C>G (p.Phe348Leu)
NM_005902.4(SMAD3):c.1062G>T (p.Gln354His) rs1567003470
NM_005902.4(SMAD3):c.1080T>G (p.Phe360Leu) rs2140323584
NM_005902.4(SMAD3):c.1081G>A (p.Glu361Lys) rs387906856
NM_005902.4(SMAD3):c.1087G>A (p.Val363Ile)
NM_005902.4(SMAD3):c.1088T>C (p.Val363Ala)
NM_005902.4(SMAD3):c.1088T>G (p.Val363Gly) rs1595962693
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.109A>T (p.Ser37Cys)
NM_005902.4(SMAD3):c.1102C>G (p.Arg368Gly) rs757106110
NM_005902.4(SMAD3):c.110G>T (p.Ser37Ile) rs1555405107
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle) rs863223769
NM_005902.4(SMAD3):c.110_121del (p.Ser37_Lys40del) rs863223755
NM_005902.4(SMAD3):c.1112C>A (p.Thr371Asn) rs1963251370
NM_005902.4(SMAD3):c.1117C>A (p.Arg373Ser) rs863223746
NM_005902.4(SMAD3):c.1118G>T (p.Arg373Leu) rs1060500766
NM_005902.4(SMAD3):c.1121T>A (p.Met374Lys) rs1555414240
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
NM_005902.4(SMAD3):c.1135G>A (p.Gly379Ser)
NM_005902.4(SMAD3):c.1137C>T (p.Gly379=)
NM_005902.4(SMAD3):c.1138T>G (p.Trp380Gly) rs1963252441
NM_005902.4(SMAD3):c.1141G>A (p.Gly381Arg)
NM_005902.4(SMAD3):c.1142G>T (p.Gly381Val) rs1963252519
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) rs886038836
NM_005902.4(SMAD3):c.1154+3C>T
NM_005902.4(SMAD3):c.1155-1G>A rs1963331116
NM_005902.4(SMAD3):c.115G>C (p.Val39Leu) rs2140188954
NM_005902.4(SMAD3):c.1175C>A (p.Thr392Asn) rs1555414486
NM_005902.4(SMAD3):c.1178C>G (p.Pro393Arg)
NM_005902.4(SMAD3):c.1180T>G (p.Cys394Gly) rs2140327744
NM_005902.4(SMAD3):c.1183T>A (p.Trp395Arg)
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn) rs1595965957
NM_005902.4(SMAD3):c.1187T>C (p.Ile396Thr) rs1595965957
NM_005902.4(SMAD3):c.1190A>G (p.Glu397Gly) rs1060500765
NM_005902.4(SMAD3):c.1190A>T (p.Glu397Val) rs1060500765
NM_005902.4(SMAD3):c.1195C>T (p.His399Tyr) rs1233301604
NM_005902.4(SMAD3):c.1221T>G (p.Leu407=)
NM_005902.4(SMAD3):c.1222G>C (p.Asp408His) rs201263330
NM_005902.4(SMAD3):c.1228G>T (p.Val410Phe) rs863223748
NM_005902.4(SMAD3):c.1228_1229insATGGCCTTTGCAGTGCCA (p.Val410delinsAspGlyLeuCysSerAlaIle) rs1963333453
NM_005902.4(SMAD3):c.1231C>T (p.Leu411Phe)
NM_005902.4(SMAD3):c.1252A>G (p.Ser418Gly)
NM_005902.4(SMAD3):c.1262G>A (p.Cys421Tyr)
NM_005902.4(SMAD3):c.1265C>A (p.Ser422Tyr) rs1567005581
NM_005902.4(SMAD3):c.1265C>G (p.Ser422Cys)
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.1269T>A (p.Ser423Arg) rs1060500772
NM_005902.4(SMAD3):c.1278G>C (p.Ter426Tyr) rs1555414506
NM_005902.4(SMAD3):c.145G>C (p.Asp49His)
NM_005902.4(SMAD3):c.148G>A (p.Glu50Lys) rs863223751
NM_005902.4(SMAD3):c.152T>C (p.Leu51Pro)
NM_005902.4(SMAD3):c.152T>G (p.Leu51Arg) rs1595882150
NM_005902.4(SMAD3):c.157A>G (p.Lys53Glu) rs2140189069
NM_005902.4(SMAD3):c.160G>A (p.Ala54Thr) rs2140189075
NM_005902.4(SMAD3):c.161C>G (p.Ala54Gly)
NM_005902.4(SMAD3):c.163A>T (p.Ile55Phe)
NM_005902.4(SMAD3):c.163_177del (p.Ile55_Asn59del) rs1595882160
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys) rs1959915488
NM_005902.4(SMAD3):c.182A>C (p.Asn61Thr)
NM_005902.4(SMAD3):c.190T>C (p.Cys64Arg) rs1060500768
NM_005902.4(SMAD3):c.193A>T (p.Ile65Phe)
NM_005902.4(SMAD3):c.194T>A (p.Ile65Asn)
NM_005902.4(SMAD3):c.194T>C (p.Ile65Thr) rs1555405117
NM_005902.4(SMAD3):c.199A>G (p.Ile67Val)
NM_005902.4(SMAD3):c.203C>T (p.Pro68Leu)
NM_005902.4(SMAD3):c.205A>G (p.Arg69Gly) rs1959916737
NM_005902.4(SMAD3):c.206+3G>T rs1265081565
NM_005902.4(SMAD3):c.206+5G>A rs1959917032
NM_005902.4(SMAD3):c.206G>A (p.Arg69Lys) rs1959916789
NM_005902.4(SMAD3):c.207-6_207-5insA
NM_005902.4(SMAD3):c.212T>C (p.Leu71Pro) rs1262859970
NM_005902.4(SMAD3):c.215A>G (p.Asp72Gly)
NM_005902.4(SMAD3):c.217G>A (p.Gly73Ser) rs1595941556
NM_005902.4(SMAD3):c.229G>T (p.Val77Leu)
NM_005902.4(SMAD3):c.236A>G (p.His79Arg)
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp) rs750707381
NM_005902.4(SMAD3):c.239G>C (p.Arg80Pro) rs758823376
NM_005902.4(SMAD3):c.243G>T (p.Lys81Asn) rs1555412065
NM_005902.4(SMAD3):c.270_271delinsAA (p.Leu91Met) rs1962535802
NM_005902.4(SMAD3):c.272T>C (p.Leu91Pro)
NM_005902.4(SMAD3):c.290T>C (p.Leu97Pro) rs1595941698
NM_005902.4(SMAD3):c.292C>T (p.His98Tyr) rs1962536933
NM_005902.4(SMAD3):c.298CAC[1] (p.His101del)
NM_005902.4(SMAD3):c.303C>G (p.His101Gln)
NM_005902.4(SMAD3):c.306_308dup (p.Leu103dup) rs1962537774
NM_005902.4(SMAD3):c.308_309delinsCG (p.Leu103Pro) rs2140294002
NM_005902.4(SMAD3):c.309_310inv (p.Arg104Trp)
NM_005902.4(SMAD3):c.313G>C (p.Ala105Pro)
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr) rs1301737199
NM_005902.4(SMAD3):c.320A>G (p.Glu107Gly)
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg) rs1962538901
NM_005902.4(SMAD3):c.325T>A (p.Cys109Ser) rs1555412079
NM_005902.4(SMAD3):c.326G>A (p.Cys109Tyr) rs878854814
NM_005902.4(SMAD3):c.331T>C (p.Phe111Leu) rs1595941801
NM_005902.4(SMAD3):c.343A>G (p.Met115Val)
NM_005902.4(SMAD3):c.345G>A (p.Met115Ile) rs1595941837
NM_005902.4(SMAD3):c.358G>T (p.Val120Phe)
NM_005902.4(SMAD3):c.359T>G (p.Val120Gly) rs1962540440
NM_005902.4(SMAD3):c.364G>T (p.Val122Leu)
NM_005902.4(SMAD3):c.376C>A (p.His126Asn)
NM_005902.4(SMAD3):c.377A>G (p.His126Arg) rs863223766
NM_005902.4(SMAD3):c.379T>A (p.Tyr127Asn) rs1962541191
NM_005902.4(SMAD3):c.401-7C>A rs774268232
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu) rs751860407
NM_005902.4(SMAD3):c.449T>A (p.Phe150Tyr)
NM_005902.4(SMAD3):c.451C>T (p.Pro151Ser)
NM_005902.4(SMAD3):c.454C>G (p.Pro152Ala)
NM_005902.4(SMAD3):c.463G>A (p.Asp155Asn)
NM_005902.4(SMAD3):c.467A>G (p.Tyr156Cys) rs1397686956
NM_005902.4(SMAD3):c.481C>A (p.Pro161Thr)
NM_005902.4(SMAD3):c.481C>T (p.Pro161Ser)
NM_005902.4(SMAD3):c.490A>G (p.Thr164Ala)
NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)
NM_005902.4(SMAD3):c.532+3A>G
NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)
NM_005902.4(SMAD3):c.575G>A (p.Ser192Asn)
NM_005902.4(SMAD3):c.596G>T (p.Ser199Ile) rs2140296884
NM_005902.4(SMAD3):c.598A>G (p.Met200Val)
NM_005902.4(SMAD3):c.601G>T (p.Asp201Tyr) rs1182834384
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly) rs1416321033
NM_005902.4(SMAD3):c.603C>G (p.Asp201Glu)
NM_005902.4(SMAD3):c.631C>G (p.Pro211Ala)
NM_005902.4(SMAD3):c.635T>C (p.Met212Thr)
NM_005902.4(SMAD3):c.644C>G (p.Ala215Gly) rs376353913
NM_005902.4(SMAD3):c.658G>A (p.Asp220Asn) rs2140301204
NM_005902.4(SMAD3):c.658G>C (p.Asp220His)
NM_005902.4(SMAD3):c.682G>A (p.Glu228Lys) rs863223735
NM_005902.4(SMAD3):c.686C>T (p.Pro229Leu) rs1232187684
NM_005902.4(SMAD3):c.699C>G (p.Cys233Trp) rs2140313911
NM_005902.4(SMAD3):c.707C>T (p.Ser236Phe) rs1963046088
NM_005902.4(SMAD3):c.709TAC[1] (p.Tyr238del) rs863223752
NM_005902.4(SMAD3):c.719T>A (p.Leu240Gln)
NM_005902.4(SMAD3):c.721A>C (p.Asn241His)
NM_005902.4(SMAD3):c.728G>A (p.Arg243His) rs863223736
NM_005902.4(SMAD3):c.72C>G (p.Asn24Lys) rs780995229
NM_005902.4(SMAD3):c.730G>T (p.Val244Phe) rs773543026
NM_005902.4(SMAD3):c.734G>A (p.Gly245Glu) rs1963047822
NM_005902.4(SMAD3):c.742T>G (p.Phe248Val)
NM_005902.4(SMAD3):c.769G>A (p.Val257Met) rs1963049659
NM_005902.4(SMAD3):c.773A>G (p.Asp258Gly) rs1566999483
NM_005902.4(SMAD3):c.776G>A (p.Gly259Asp) rs1963050062
NM_005902.4(SMAD3):c.781A>G (p.Thr261Ala) rs1060500764
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser) rs863223739
NM_005902.4(SMAD3):c.790_792dup (p.Ser264dup) rs2140314233
NM_005902.4(SMAD3):c.79GAG[1] (p.Glu28del)
NM_005902.4(SMAD3):c.805T>C (p.Phe269Leu) rs1595956712
NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)
NM_005902.4(SMAD3):c.835A>G (p.Arg279Gly) rs1595956756
NM_005902.4(SMAD3):c.838A>T (p.Asn280Tyr) rs2140314384
NM_005902.4(SMAD3):c.842C>T (p.Ala281Val) rs1963053530
NM_005902.4(SMAD3):c.854T>C (p.Leu285Pro)
NM_005902.4(SMAD3):c.864_866dup (p.Arg288_His289insGln)
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) rs730880215
NM_005902.4(SMAD3):c.871G>C (p.Gly291Arg)
NM_005902.4(SMAD3):c.872-6_872-5del rs1963174213
NM_005902.4(SMAD3):c.884G>A (p.Arg295Gln) rs772730200
NM_005902.4(SMAD3):c.884G>T (p.Arg295Leu) rs772730200
NM_005902.4(SMAD3):c.887T>C (p.Leu296Pro) rs2140319849
NM_005902.4(SMAD3):c.907G>A (p.Val303Ile) rs1060500767
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) rs1555414011
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.925A>G (p.Ser309Gly) rs754409301
NM_005902.4(SMAD3):c.931A>G (p.Ser311Gly)
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr) rs750756638
NM_005902.4(SMAD3):c.934G>C (p.Ala312Pro)
NM_005902.4(SMAD3):c.937A>G (p.Ile313Val) rs1595960434
NM_005902.4(SMAD3):c.943G>A (p.Val315Ile)
NM_005902.4(SMAD3):c.943G>T (p.Val315Phe) rs1468779374
NM_005902.4(SMAD3):c.955A>G (p.Asn319Asp) rs1595960455
Single allele

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